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Results for "CLOCK"

Variant Events: 31

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
CLOCK     7-0100-003chr4:
56371803-56371803
GCintronicDe novo--Trost2022 G
CLOCK     7-0100-003chr4:
56371784-56371784
CTintronicDe novo--Trost2022 G
CLOCK     7-0100-003chr4:
56371788-56371788
AGintronicDe novo--Trost2022 G
CLOCK     1-0303-003chr4:
56371691-56371694
TGTTCGAGintronicDe novo--Trost2022 G
CLOCK     1-0303-003chr4:
56371700-56371703
ACGTGGGCintronicDe novo--Trost2022 G
CLOCK     1-0683-004chr4:
56371676-56371676
CCAintronicDe novo--Yuen2017 G
CLOCK     7-0024-003chr4:
56371648-56371648
TCintronicDe novo--Trost2022 G
CLOCK     5-0055-003chr4:
56294879-56294879
AGUTR3De novo--Trost2022 G
Yuen2017 G
CLOCK     7-0024-003chr4:
56371651-56371652
CATGintronicDe novo--Trost2022 G
CLOCK     SP0000938chr4:
56329935-56329935
GAexonicDe novononsynonymous SNVNM_004898
NM_001267843
c.C476T
c.C476T
p.P159L
p.P159L
32.0-Fu2022 E
Zhou2022 GE
CLOCK     AU4089302chr4:
56357326-56357326
AGintronicDe novo--Trost2022 G
Yuen2017 G
CLOCK     5-0050-004chr4:
56371687-56371687
TCintronicDe novo--Yuen2017 G
CLOCK     1-0051-005chr4:
56303820-56303820
TTAAAintronicDe novo--Trost2022 G
Yuen2017 G
CLOCK     AU066403chr4:
56349768-56349768
TCintronicDe novo--Trost2022 G
Yuen2017 G
CLOCK     1-0201-005chr4:
56371676-56371676
CCAintronicDe novo--Yuen2017 G
CLOCK     2-0088-003chr4:
56371676-56371676
CCAintronicDe novo--Yuen2017 G
CLOCK     1-0255-003chr4:
56409713-56409713
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CLOCK     AU3861301chr4:
56310675-56310675
TAintronicDe novo--Trost2022 G
Yuen2017 G
CLOCK     1-0051-004chr4:
56303820-56303820
TTAAAintronicDe novo--Trost2022 G
Yuen2017 G
CLOCK     SP0045977chr4:
56336962-56336962
ACexonicsynonymous SNVNM_004898
NM_001267843
c.T360G
c.T360G
p.G120G
p.G120G
--Zhou2022 GE
CLOCK     More2023:22chr4:
56319253-56319253
CGexonicInheritednonsynonymous SNVNM_004898
NM_001267843
c.G1174C
c.G1174C
p.E392Q
p.E392Q
25.1-More2023 G
CLOCK     2-1094-005chr4:
56371676-56371676
CCAintronicDe novo--Yuen2017 G
CLOCK     GM172359chr4:
56325161-56325161
GAexonicDe novosynonymous SNVNM_004898
NM_001267843
c.C690T
c.C690T
p.H230H
p.H230H
--Fu2022 E
CLOCK     2-1120-003chr4:
56371557-56371558
AAGCintronicDe novo--Trost2022 G
CLOCK     7-0024-003chr4:
56371642-56371643
GCCTintronicDe novo--Trost2022 G
CLOCK     1-1054-003chr4:
56337523-56337523
GAintronicDe novo--Trost2022 G
CLOCK     SP0249407chr4:
56348877-56348877
TCintronicDe novo--Trost2022 G
CLOCK     5-0005-003chr4:
56333909-56333909
AATintronicDe novo--Trost2022 G
CLOCK     MSSNG00353-004chr4:
56337121-56337121
TCintronicDe novo--Trost2022 G
CLOCK     1-0338-005chr4:
56293823-56293823
TTAACdownstreamDe novo--Trost2022 G
Yuen2017 G
CLOCK     7-0081-003chr4:
56311465-56311465
CGintronicDe novo--Trost2022 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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